A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722012



Internal ID21748333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:3155635..3155635hg38UCSC Ensembl
chr2:3159406..3159406hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234093, nssv17236747
Samples
Known Genes
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5722012
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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